Disease Name:
Down Syndrome
Alternative Names:
47,XX,+21
47,XY,+21
Down Syndrome, Partial Trisomy 21
Down's Syndrome
Mongolism
Partial Trisomy 21 Down Syndrome
Trisomy 21
Trisomy 21, Meiotic Nondisjunction
Trisomy 21, Mitotic Nondisjunction
Trisomy G
DS
MeSH Description:
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe intellectual disability. Cardiac and gastrointestinal malformations, a marked increase in the incidence of leukemia, and the early onset of Alzheimer disease are also associated with this condition. Pathologic features include the development of neurofibrillary tangles in neurons and the deposition of amyloid beta-protein, similar to the pathology of Alzheimer disease.
Type:
Clinical condition associated with amyloidosis
ICD-10 Classification
Chromosomal Abnormalities
Tissue:
Central Nervous System (CNS)
Associated Amyloidosis:
Alzheimer Disease
Precursor Proteins:
P05067: Amyloid-beta A4 protein
Primary Name:
Amyloid-beta A4 protein
Gene Name:
APP
Alternative Protein Names:
Amyloid-beta A4 protein (ABPP) (APPI) (APP) (Alzheimer disease amyloid protein) (Amyloid precursor protein) (Amyloid-beta precursor protein) (Cerebral vascular amyloid peptide) (CVAP) (PreA4) (Protease nexin-II) (PN-II) [Cleaved into: N-APP; Soluble APP-alpha (S-APP-alpha); Soluble APP-beta (S-APP-beta); C99 (Beta-secretase C-terminal fragment) (Beta-CTF); Amyloid-beta protein 42 (Abeta42) (Beta-APP42); Amyloid-beta protein 40 (Abeta40) (Beta-APP40); C83 (Alpha-secretase C-terminal fragment) (Alpha-CTF); P3(42); P3(40); C80; Gamma-secretase C-terminal fragment 59 (Amyloid intracellular domain 59) (AICD-59) (AID(59)) (Gamma-CTF(59)); Gamma-secretase C-terminal fragment 57 (Amyloid intracellular domain 57) (AICD-57) (AID(57)) (Gamma-CTF(57)); Gamma-secretase C-terminal fragment 50 (Amyloid intracellular domain 50) (AICD-50) (AID(50)) (Gamma-CTF(50)); C31]
ISA Nomenclature:
Aß
Protein Length:
770
Precursor Protein Sequence:
MLPGLALLLLAAWTARALEVPTDGNAGLLAEPQIAMFCGRLNMHMNVQNGKWDSDPSGTKTCIDTKEGILQYCQEVYPELQITNVVEANQPVTIQNWCKRGRKQCKTHPHFVIPYRCLVGEFVSDALLVPDKCKFLHQERMDVCETHLHWHTVAKETCSEKSTNLHDYGMLLPCGIDKFRGVEFVCCPLAEESDNVDSADAEEDDSDVWWGGADTDYADGSEDKVVEVAEEEEVAEVEEEEADDDEDDEDGDEVEEEAEEPYEEATERTTSIATTTTTTTESVEEVVREVCSEQAETGPCRAMISRWYFDVTEGKCAPFFYGGCGGNRNNFDTEEYCMAVCGSAMSQSLLKTTQEPLARDPVKLPTTAASTPDAVDKYLETPGDENEHAHFQKAKERLEAKHRERMSQVMREWEEAERQAKNLPKADKKAVIQHFQEKVESLEQEAANERQQLVETHMARVEAMLNDRRRLALENYITALQAVPPRPRHVFNMLKKYVRAEQKDRQHTLKHFEHVRMVDPKKAAQIRSQVMTHLRVIYERMNQSLSLLYNVPAVAEEIQDEVDELLQKEQNYSDDVLANMISEPRISYGNDALMPSLTETKTTVELLPVNGEFSLDDLQPWHSFGADSVPANTENEVEPVDARPAADRGLTTRPGSGLTNIKTEEISEVKMDAEFRHDSGYEVHHQKLVFFAEDVGSNKGAIIGLMVGGVVIATVIVITLVMLKKKQYTSIHHGVVEVDAAVTPEERHLSKMQQNGYENPTYKFFEQMQN
UniProt AC:
P05067
UniProt ID:
A4_HUMAN
AmyPro:
AP00010
Co-deposited Proteins:
P01034: Cystatin-C
Primary Name:
Cystatin-C
Gene Name:
CST3
Association Source:
2408196
Protein Names:
Cystatin-C (Cystatin-3) (Gamma-trace) (Neuroendocrine basic polypeptide) (Post-gamma-globulin)
Protein Length:
146
Protein Sequence:
MAGPLRAPLLLLAILAVALAVSPAAGSSPGKPPRLVGGPMDASVEEEGVRRALDFAVGEYNKASNDMYHSRALQVVRARKQIVAGVNYFLDVELGRTTCTKTQPNLDNCPFHDQPHLKRKAFCSFQIYAVPWQGTMTLSKSTCQDA
UniProt AC:
P01034
UniProt ID:
CYTC_HUMAN
P02649: Apolipoprotein E
Primary Name:
Apolipoprotein E
Gene Name:
APOE
Association Source:
1625800
Protein Names:
Apolipoprotein E (Apo-E)
Protein Length:
317
Protein Sequence:
MKVLWAALLVTFLAGCQAKVEQAVETEPEPELRQQTEWQSGQRWELALGRFWDYLRWVQTLSEQVQEELLSSQVTQELRALMDETMKELKAYKSELEEQLTPVAEETRARLSKELQAAQARLGADMEDVCGRLVQYRGEVQAMLGQSTEELRVRLASHLRKLRKRLLRDADDLQKRLAVYQAGAREGAERGLSAIRERLGPLVEQGRVRAATVGSLAGQPLQERAQAWGERLRARMEEMGSRTRDRLDEVKEQVAEVRAKLEEQAQQIRLQAEAFQARLKSWFEPLVEDMQRQWAGLVEKVQAAVGTSAAPVPSDNH
UniProt AC:
P02649
UniProt ID:
APOE_HUMAN
P02745: Complement C1q subcomponent subunit A
Primary Name:
Complement C1q subcomponent subunit A
Gene Name:
C1QA
Association Source:
11300721
Protein Names:
Complement C1q subcomponent subunit A
Protein Length:
245
Protein Sequence:
MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPGAPGIRTGIQGLKGDQGEPGPSGNPGKVGYPGPSGPLGARGIPGIKGTKGSPGNIKDQPRPAFSAIRRNPPMGGNVVIFDTVITNQEEPYQNHSGRFVCTVPGYYYFTFQVLSQWEICLSIVSSSRGQVRRSLGFCDTTNKGLFQVVSGGMVLQLQQGDQVWVEKDPKKGHIYQGSEADSVFSGFLIFPSA
UniProt AC:
P02745
UniProt ID:
C1QA_HUMAN
P02746: Complement C1q subcomponent subunit B
Primary Name:
Complement C1q subcomponent subunit B
Gene Name:
C1QB
Association Source:
11300721
Protein Names:
Complement C1q subcomponent subunit B
Protein Length:
253
Protein Sequence:
MMMKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEKGLPGLAGDHGEFGEKGDPGIPGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQKIAFSATRTINVPLRRDQTIRFDHVITNMNNNYEPRSGKFTCKVPGLYYFTYHASSRGNLCVNLMRGRERAQKVVTFCDYAYNTFQVTTGGMVLKLEQGENVFLQATDKNSLLGMEGANSIFSGFLLFPDMEA
UniProt AC:
P02746
UniProt ID:
C1QB_HUMAN
P02747: Complement C1q subcomponent subunit C
Primary Name:
Complement C1q subcomponent subunit C
Gene Name:
C1QC
Association Source:
11300721
Protein Names:
Complement C1q subcomponent subunit C
Protein Length:
245
Protein Sequence:
MDVGPSSLPHLGLKLLLLLLLLPLRGQANTGCYGIPGMPGLPGAPGKDGYDGLPGPKGEPGIPAIPGIRGPKGQKGEPGLPGHPGKNGPMGPPGMPGVPGPMGIPGEPGEEGRYKQKFQSVFTVTRQTHQPPAPNSLIRFNAVLTNPQGDYDTSTGKFTCKVPGLYYFVYHASHTANLCVLLYRSGVKVVTFCGHTSKTNQVNSGGVLLRLQVGEEVWLAVNDYYDMVGIQGSDSVFSGFLLFPD
UniProt AC:
P02747
UniProt ID:
C1QC_HUMAN
